PIK3R1 and SHORT syndrome: Mutations in PIK3R1 cause agammaglobulinemia 7 (Conley et al., 2012), immunodeficiency 36 (Deau et al., 2014; Lucas et al., 2014), and SHORT syndrome (Dyment et al., 2013), which is characterized by short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay (Dyment et al., 2013; Thauvin-Robinet et al., 2013).